RARE DISEASE
Monosomy 5p
Monosomy 5p
Monosomy 5p
Synonyms: Cri du chat syndrome, Deletion 5p
Synonyms: Cri du chat syndrome, Deletion 5p
Synonyms: Cri du chat syndrome, Deletion 5p
Drug discovery
46
papers
On emerging therapies
Overview
Monosomy 5p (Cri du Chat syndrome) is a rare chromosomal disorder caused by partial/total deletion of chromosome 5p15.2-p15.3, presenting with infantile high-pitched cry, microcephaly, facial dysmorphism (hypertelorism, low-set ears), developmental delay, and intellectual disability. Associated features include hypotonia, growth restriction, and increased risk of respiratory/gastrointestinal infections. Phenotypic severity correlates with deletion size and location [1][5][14]. Diagnosis relies on clinical features confirmed by karyotype/FISH/CMA [1][5].
Burden
Mortality: 6–10% in first year (cardiopulmonary complications); normal life expectancy if surviving infancy without major organ defects [2][7][14]
Morbidity: 100% require lifelong support for intellectual disability; 70–80% with hyperacusis, 45–53% strabismus [2][6][13]
Psychosocial impact: High caregiver strain due to communication limitations, sleep disturbances, and aggressive/self-injurious behaviors [9][13][14]
Therapies
Early intervention: Multidisciplinary therapy (physical, occupational, speech) for motor/speech deficits [6][7][11]
Surgical management: Correction of congenital heart defects, strabismus, orofacial anomalies [7][14]
Supportive care: Respiratory infection prevention, hearing/vision support (e.g., tympanostomy tubes, hearing aids), behavioral interventions for hyperactivity/self-harm [2][6][9]
Categories: rare developmental anomalies during embryogenesis, rare genetic diseases, rare ophthalmic disorders
Research Papers
46 drug discovery papers about Monosomy 5p. Recent publications:
46 drug discovery papers about Monosomy 5p. Recent publications:
categories:
Small molecules
small molecules
2025-07-11 | The Business Case for Drug Repurposing in Cri du Chat Syndrome Patients
Cri du Chat syndrome (CdCS) is a rare genetic disorder caused by spontaneous deletion on the short arm of chromosome 5 (5p-), resulting in developmental delays, intellectual disability, and lifelong unmet medical needs. Despite being well recognized, there are no dedicated therapies that directly address the core symptoms of CdCS, leaving families with only supportive care and limited treatment options.
To help close this gap, we collaborated with the Cri du Chat Research Foundation to identify actionable targets. We systematically analyzed and ranked gene targets/pathways with high indication of haploinsufficiency central to CdCS neurological dysfunction implicated in multiple clinical symptoms. Cross-referencing with druggability databases revealed a strong opportunity to repurpose approved drugs. Additional feasibility and market research, including Freedom-to-Operate, indicate we can offer a potentially faster, cost-effective, and lower-risk path to bring meaningful treatment options to CdCS patients. Our target pathway and candidate drugs currently remain undisclosed to facilitate an effective IP strategy.
Drug repurposing aligns with our commitment to advance equitable drug development for underserved patient populations. By leveraging compounds with established safety profiles and streamlined regulatory pathways, we aim to reduce time and cost to reach clinical proof-of-concept. The commercial viability is strengthened by opportunities to secure medical use patents, orphan drug incentives, patient registries, and an engaged patient community — ensuring faster access to novel interventions and a sustainable path to market.
This CdCS program shows how targeted, data-driven strategies and close patient partnerships can unlock transformative therapies for conditions long overlooked by conventional pipelines.
2024-09-11 | Pharmacological tightrope: risperidone's balancing act in cri du chat syndrome.
This case report describes an infrequent instance of risperidone-induced hyperprolactinemia in a 23-year-old nonverbal male with cri du chat syndrome. Risperidone, initially prescribed to manage aggressive behaviors, resulted in bilateral gynecomastia and hyperprolactinemia. Tapering of risperidone led to resolution of these symptoms but exposed a resurgence of excessive masturbation, a behavior previously suppressed by the medication. Reintroduction of risperidone controlled this behavior, suggesting its potential role in managing compulsive behaviors in this population. This case underscores the complex interaction between pharmacological treatment and behavioral symptoms in neurodevelopmental disorders. It highlights the necessity for meticulous monitoring and individualized treatment approaches in managing such cases. Initially prescribed for managing aggressive behaviors, Risperidone led to bilateral gynecomastia and hyperprolactinemia in the patient. Gradual tapering of Risperidone alleviated these symptoms but unveiled a resurgence of excessive masturbation, a behavior previously suppressed by the medication. Reintroduction of Risperidone mitigated this behavior, suggesting its potential efficacy in managing compulsive tendencies in this demographic. This case highlights the intricate interplay between pharmacological interventions and the complex behavioral manifestations of neurodevelopmental disorders. It underscores the importance of vigilant monitoring and personalized treatment strategies in such cases.
2020-11-24 | Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5.
Few hematological complications have previously been reported in association with Cri du Chat syndrome (CdCS). A case of myelodysplastic syndromes (MDS) in a pediatric patient with CdCS is herein presented. A 17-year-old female with CdCS caused by ring chromosome 5 was admitted to the hospital for investigation of a 1-month history of anemia. Based on the morphological findings of bone marrow, the patient was diagnosed with refractory cytopenia with multilineage dysplasia. The risk group was classified as intermediate-1 in the International Prognostic Scoring System (IPSS), and low in the revised IPSS. Assessment by microarray comparative genomic hybridization (CGH) identified the breakpoints of ring chromosome 5 as 46,XX,r(5)(p14.3q35.3). This revealed that the 5q terminal deletion did not include the common deleted region of MDS with del(5q). Treatment with azacitidine was initiated to control disease progression and improve quality of life. At baseline, the patient had a mean transfusion requirement of 3 units/month, which decreased to 2 units/month after six cycles of azacitidine and to 1 unit/month after 10 cycles of azacitidine. Cytopenia observed in the presented case seemed irrelevant to ring chromosome 5 which is the causative cytogenetic abnormality of CdCS, and further analyses may be needed to clarify the pathogenesis.
2018-01-25 | Profiles of amino acids and biogenic amines in the plasma of Cri-du-Chat patients.
Cri-du-chat syndrome (CDCS) is a rare innate disease attributed to chromosome 5p deletion characterized by a cat-like cry, craniofacial malformation, and altered behavior of affected children. Metabolomic analysis and a chemometric approach allow description of the metabolic profile of CDCS as compared to normal subjects. In the present work, UHPLC/MS was employed to analyze blood samples withdrawn from CDCS carriers (n=18) and normal parental subjects (n=18), all aged 0-34 years, aiming to set up a representative CDCS profile constructed from 33 targeted amino acids and biogenic amines. Methionine sulfoxide (MetO) was of particular concern with respect to CDCS redox balance. Increased serotonin (3-fold), methionine sulfoxide (2-fold), and Asp levels, and a little lower Orn, citrulline, Leu, Val, Ile, Asn, Gln, Trp, Thr, His, Phe, Met, and creatinine levels were found in the plasma of CDCS patients. Nitrotyrosine and Trp did not differ in normal and CDCS individuals.The accumulated metabolites may reflect, respectively, disturbances in the redox balance, deficient purine biosynthesis, and altered behavior, whereas the amino acid abatement in the latter group may affect the homeostasis of the urea cycle, citric acid cycle, branched chain amino acid synthesis, Tyr and Trp metabolism and amino acid biosynthesis. The identification of enzymatic deficiencies leading to the amino acid burden in CDCS is further required for elucidating its molecular bases and eventually propose specific or mixed amino acid supplementation to newborn patients aiming to balance their metabolism.
2017-11-20 | DNA methylation alterations in the genome of a toddler with cri‐du‐chat syndrome
Key Clinical Message This manuscript reports on genomewide epigenetic alterations in cri‐du‐chat syndrome related to a partial aneusomy of chromosome 5. A systematic analysis of these alterations will open up new possibilities for the prognostic evaluation of CDCS patients and the development of new therapeutic interventions for reducing the severity of the disease.
gene therapies
2026-06-09 | Uncommon Movements in a Rare Syndrome: Adult-Onset Dystonia in 5p deletion (P11-16.004)
We describe a 30-year-old woman with genetically confirmed Cri du Chat syndrome (CdCS) with cervical and right arm dystonia.
2026-02-17 | Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review
The MacArthur-Bates Communicative Development Inventories (CDIs) are widely used parent-report tools for assessing early language development, including gesture use, expressive and receptive vocabulary, and early morpho-syntactic capacities. While originally developed for typically developing children aged 8 up to 36 months and aimed at detecting developmental language disorder, CDIs have been increasingly applied in studies of neurodevelopmental and genetic conditions, where language development often diverges from typical trajectories. In this review, we synthesize literature on the use of CDIs in a range of clinical populations, including autism, Down syndrome, Williams syndrome, cerebral palsy, Angelman syndrome, DDX3X syndrome, 5p deletion syndrome, fragile X syndrome, and others. We highlight condition-specific patterns of expressive vocabulary development, discuss the value of longitudinal data collection using CDIs, and visualize age trends that capture change and variability across developmental pathways. Particular attention is given to methodological considerations such as cross-linguistic adaptations, reporting biases, and the limitations of single-timepoint assessments. While CDIs show promise for tracking language trajectories and informing early support, challenges remain in ensuring their reliability, validity, and suitability as screening tools. We conclude by emphasizing the importance of longitudinal, cross-condition, and cross-cultural approaches to better understand atypical language development and to improve the utility of CDIs in both research and applied settings.
2025-06-13 | Rare chromosomal diseases: a clinical case of Lejeune syndrome
Cri du chat syndrome (ICD-10: Q93.4, Lejeune syndrome) is a hereditary disease caused by the loss of part of the fifth chromosome. Despite the fact that Lejeune syndrome is not considered the most dangerous genetic disease, the general prognosis is unfavorable. Only 10% of children survive to the age of 10, 5% – to 18 years. Taking into account that this pathology is extremely rare in the practice of a pediatrician, and there are isolated publications in the domestic literature, the authors present a clinical case with identified chromosomal pathology
2025-03-31 | Deletion Disorders
Cri-du-chat, Wolf-Hirschhorn, 22q11.2, Prader-Willi, and Smith-Magenis are neurogenetic disorders caused by a deletion of genetic material on one chromosome. Each condition is associated with a relatively well-defined developmental, physical health, and mental health phenotype. This chapter reviews the current state of knowledge regarding these deletion disorders with a focus on general and syndrome-specific assessment and intervention considerations.
2025-02-18 | Behavioral Abnormalities, Cognitive Impairments, Synaptic Deficits, and Gene Replacement Therapy in a CRISPR Engineered Rat Model of 5p15.2 Deletion Associated With Cri du Chat Syndrome.
The Cri du Chat Syndrome (CdCS), a devastating genetic disorder caused by a deletion on chromosome 5p, faces challenges in finding effective treatments and accurate animal models. Using CRISPR-Cas9, a novel CdCS rat model with a 2q22 deletion is developed, mirroring a common genetic alteration in CdCS patients. This model exhibits pronounced deficits in social behavior, cognition, and anxiety, accompanied by neuronal abnormalities and immune dysregulation in key brain regions such as the hippocampus and medial prefrontal cortex (mPFC). The immunostaining and RNA-seq analyses provide new insights into CdCS pathogenesis, revealing inflammatory and immune processes. Importantly, it is demonstrated that early gene replacement therapy with AAV-Ctnnd2 alleviates cognitive impairments in CdCS rats, highlighting the potential for early intervention. However, the effectiveness of this therapy is confined to the early developmental stages and does not fully restore all CdCS symptoms. The findings deepen the understanding of CdCS pathogenesis and suggest promising therapeutic directions.
cell therapies
2024-08-09 | Establishment and Characterization of Cri Du Chat Neuronal Stem Cells: A Novel Promising Resource to Study the Syndrome
The Cri Du Chat (CdC) Syndrome is a rare chromosome disease condition resulting from variable size deletion occurring on the short arm of one of the chromosomes 5. This disorder, which affects one in 50,000 births, is responsible for developmental retardation, the mechanism of which has remained unexplained. TERT, SEMA5A, CTNND2, TPPP, mapped in chromosome 5 short arm, are known to be expressed in the brain, and to play a role in the development of the nervous system, oligodentrocytes and in the regulation of glutamatergic and dopaminergic synaptic transmission. It is critical to understand how their haploinsufficiency might affect the development and presentation of the disease. In the absence of an animal model and of significant accessible, human tissue, human pluripotent stem cells (iPSC) directly reprogrammed from patient somatic cells open a new area of disease modeling as they can virtually be differentiated into any cell type. Our study reports, for the first time, the generation of neuronal stem cells (NSCs) from CdC-iPSCs line and in addition, subsequent differentiation into a heterogeneous population of neurons. Gene expression of the mentioned and single copy deleted genes was also evaluated by comparing their expression level in iPSC, NSCs and neuron lines. The present research represents the first and the most innovative approach, to create an in vitro CdC neuronal model to have a new translational framework to study the pathological processes.
2020-03-02 | Improved memory and reduced anxiety in δ-catenin transgenic mice.
δ-Catenin is abundant in the brain and affects its synaptic plasticity. Furthermore, loss of δ-catenin is related to the deficits of learning and memory, mental retardation (cri-du-chat syndrome), and autism. A few studies about δ-catenin deficiency mice were performed. However, the effect of δ-catenin overexpression in the brain has not been investigated as yet. Therefore we generated a δ-catenin overexpressing mouse model. To generate a transgenic mouse model overexpressing δ-catenin in the brain, δ-catenin plasmid having a Thy-1 promotor was microinjected in C57BL/6 mice. Our results showed δ-catenin transgenic mice expressed higher levels of N-cadherin, β-catenin, and p120-catenin than did wild type mice. Furthermore, δ-catenin transgenic mice exhibited better object recognition, better sociability, and lower anxiety than wild type mice. However, both mice groups showed a similar pattern in locomotion tests. Although δ-catenin transgenic mice show similar locomotion, they show improved sociability and reduced anxiety. These characteristics are opposite to the symptoms of autism or mental retardation, which are caused when δ-catenin is deficient. These results suggest that δ-catenin may alleviate symptoms of autism, Alzheimer's disease and mental retardation.
small molecules
2025-07-11 | The Business Case for Drug Repurposing in Cri du Chat Syndrome Patients
Cri du Chat syndrome (CdCS) is a rare genetic disorder caused by spontaneous deletion on the short arm of chromosome 5 (5p-), resulting in developmental delays, intellectual disability, and lifelong unmet medical needs. Despite being well recognized, there are no dedicated therapies that directly address the core symptoms of CdCS, leaving families with only supportive care and limited treatment options.
To help close this gap, we collaborated with the Cri du Chat Research Foundation to identify actionable targets. We systematically analyzed and ranked gene targets/pathways with high indication of haploinsufficiency central to CdCS neurological dysfunction implicated in multiple clinical symptoms. Cross-referencing with druggability databases revealed a strong opportunity to repurpose approved drugs. Additional feasibility and market research, including Freedom-to-Operate, indicate we can offer a potentially faster, cost-effective, and lower-risk path to bring meaningful treatment options to CdCS patients. Our target pathway and candidate drugs currently remain undisclosed to facilitate an effective IP strategy.
Drug repurposing aligns with our commitment to advance equitable drug development for underserved patient populations. By leveraging compounds with established safety profiles and streamlined regulatory pathways, we aim to reduce time and cost to reach clinical proof-of-concept. The commercial viability is strengthened by opportunities to secure medical use patents, orphan drug incentives, patient registries, and an engaged patient community — ensuring faster access to novel interventions and a sustainable path to market.
This CdCS program shows how targeted, data-driven strategies and close patient partnerships can unlock transformative therapies for conditions long overlooked by conventional pipelines.
2024-09-11 | Pharmacological tightrope: risperidone's balancing act in cri du chat syndrome.
This case report describes an infrequent instance of risperidone-induced hyperprolactinemia in a 23-year-old nonverbal male with cri du chat syndrome. Risperidone, initially prescribed to manage aggressive behaviors, resulted in bilateral gynecomastia and hyperprolactinemia. Tapering of risperidone led to resolution of these symptoms but exposed a resurgence of excessive masturbation, a behavior previously suppressed by the medication. Reintroduction of risperidone controlled this behavior, suggesting its potential role in managing compulsive behaviors in this population. This case underscores the complex interaction between pharmacological treatment and behavioral symptoms in neurodevelopmental disorders. It highlights the necessity for meticulous monitoring and individualized treatment approaches in managing such cases. Initially prescribed for managing aggressive behaviors, Risperidone led to bilateral gynecomastia and hyperprolactinemia in the patient. Gradual tapering of Risperidone alleviated these symptoms but unveiled a resurgence of excessive masturbation, a behavior previously suppressed by the medication. Reintroduction of Risperidone mitigated this behavior, suggesting its potential efficacy in managing compulsive tendencies in this demographic. This case highlights the intricate interplay between pharmacological interventions and the complex behavioral manifestations of neurodevelopmental disorders. It underscores the importance of vigilant monitoring and personalized treatment strategies in such cases.
2020-11-24 | Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5.
Few hematological complications have previously been reported in association with Cri du Chat syndrome (CdCS). A case of myelodysplastic syndromes (MDS) in a pediatric patient with CdCS is herein presented. A 17-year-old female with CdCS caused by ring chromosome 5 was admitted to the hospital for investigation of a 1-month history of anemia. Based on the morphological findings of bone marrow, the patient was diagnosed with refractory cytopenia with multilineage dysplasia. The risk group was classified as intermediate-1 in the International Prognostic Scoring System (IPSS), and low in the revised IPSS. Assessment by microarray comparative genomic hybridization (CGH) identified the breakpoints of ring chromosome 5 as 46,XX,r(5)(p14.3q35.3). This revealed that the 5q terminal deletion did not include the common deleted region of MDS with del(5q). Treatment with azacitidine was initiated to control disease progression and improve quality of life. At baseline, the patient had a mean transfusion requirement of 3 units/month, which decreased to 2 units/month after six cycles of azacitidine and to 1 unit/month after 10 cycles of azacitidine. Cytopenia observed in the presented case seemed irrelevant to ring chromosome 5 which is the causative cytogenetic abnormality of CdCS, and further analyses may be needed to clarify the pathogenesis.
2018-01-25 | Profiles of amino acids and biogenic amines in the plasma of Cri-du-Chat patients.
Cri-du-chat syndrome (CDCS) is a rare innate disease attributed to chromosome 5p deletion characterized by a cat-like cry, craniofacial malformation, and altered behavior of affected children. Metabolomic analysis and a chemometric approach allow description of the metabolic profile of CDCS as compared to normal subjects. In the present work, UHPLC/MS was employed to analyze blood samples withdrawn from CDCS carriers (n=18) and normal parental subjects (n=18), all aged 0-34 years, aiming to set up a representative CDCS profile constructed from 33 targeted amino acids and biogenic amines. Methionine sulfoxide (MetO) was of particular concern with respect to CDCS redox balance. Increased serotonin (3-fold), methionine sulfoxide (2-fold), and Asp levels, and a little lower Orn, citrulline, Leu, Val, Ile, Asn, Gln, Trp, Thr, His, Phe, Met, and creatinine levels were found in the plasma of CDCS patients. Nitrotyrosine and Trp did not differ in normal and CDCS individuals.The accumulated metabolites may reflect, respectively, disturbances in the redox balance, deficient purine biosynthesis, and altered behavior, whereas the amino acid abatement in the latter group may affect the homeostasis of the urea cycle, citric acid cycle, branched chain amino acid synthesis, Tyr and Trp metabolism and amino acid biosynthesis. The identification of enzymatic deficiencies leading to the amino acid burden in CDCS is further required for elucidating its molecular bases and eventually propose specific or mixed amino acid supplementation to newborn patients aiming to balance their metabolism.
2017-11-20 | DNA methylation alterations in the genome of a toddler with cri‐du‐chat syndrome
Key Clinical Message This manuscript reports on genomewide epigenetic alterations in cri‐du‐chat syndrome related to a partial aneusomy of chromosome 5. A systematic analysis of these alterations will open up new possibilities for the prognostic evaluation of CDCS patients and the development of new therapeutic interventions for reducing the severity of the disease.
gene therapies
2026-06-09 | Uncommon Movements in a Rare Syndrome: Adult-Onset Dystonia in 5p deletion (P11-16.004)
We describe a 30-year-old woman with genetically confirmed Cri du Chat syndrome (CdCS) with cervical and right arm dystonia.
2026-02-17 | Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review
The MacArthur-Bates Communicative Development Inventories (CDIs) are widely used parent-report tools for assessing early language development, including gesture use, expressive and receptive vocabulary, and early morpho-syntactic capacities. While originally developed for typically developing children aged 8 up to 36 months and aimed at detecting developmental language disorder, CDIs have been increasingly applied in studies of neurodevelopmental and genetic conditions, where language development often diverges from typical trajectories. In this review, we synthesize literature on the use of CDIs in a range of clinical populations, including autism, Down syndrome, Williams syndrome, cerebral palsy, Angelman syndrome, DDX3X syndrome, 5p deletion syndrome, fragile X syndrome, and others. We highlight condition-specific patterns of expressive vocabulary development, discuss the value of longitudinal data collection using CDIs, and visualize age trends that capture change and variability across developmental pathways. Particular attention is given to methodological considerations such as cross-linguistic adaptations, reporting biases, and the limitations of single-timepoint assessments. While CDIs show promise for tracking language trajectories and informing early support, challenges remain in ensuring their reliability, validity, and suitability as screening tools. We conclude by emphasizing the importance of longitudinal, cross-condition, and cross-cultural approaches to better understand atypical language development and to improve the utility of CDIs in both research and applied settings.
2025-06-13 | Rare chromosomal diseases: a clinical case of Lejeune syndrome
Cri du chat syndrome (ICD-10: Q93.4, Lejeune syndrome) is a hereditary disease caused by the loss of part of the fifth chromosome. Despite the fact that Lejeune syndrome is not considered the most dangerous genetic disease, the general prognosis is unfavorable. Only 10% of children survive to the age of 10, 5% – to 18 years. Taking into account that this pathology is extremely rare in the practice of a pediatrician, and there are isolated publications in the domestic literature, the authors present a clinical case with identified chromosomal pathology
2025-03-31 | Deletion Disorders
Cri-du-chat, Wolf-Hirschhorn, 22q11.2, Prader-Willi, and Smith-Magenis are neurogenetic disorders caused by a deletion of genetic material on one chromosome. Each condition is associated with a relatively well-defined developmental, physical health, and mental health phenotype. This chapter reviews the current state of knowledge regarding these deletion disorders with a focus on general and syndrome-specific assessment and intervention considerations.
2025-02-18 | Behavioral Abnormalities, Cognitive Impairments, Synaptic Deficits, and Gene Replacement Therapy in a CRISPR Engineered Rat Model of 5p15.2 Deletion Associated With Cri du Chat Syndrome.
The Cri du Chat Syndrome (CdCS), a devastating genetic disorder caused by a deletion on chromosome 5p, faces challenges in finding effective treatments and accurate animal models. Using CRISPR-Cas9, a novel CdCS rat model with a 2q22 deletion is developed, mirroring a common genetic alteration in CdCS patients. This model exhibits pronounced deficits in social behavior, cognition, and anxiety, accompanied by neuronal abnormalities and immune dysregulation in key brain regions such as the hippocampus and medial prefrontal cortex (mPFC). The immunostaining and RNA-seq analyses provide new insights into CdCS pathogenesis, revealing inflammatory and immune processes. Importantly, it is demonstrated that early gene replacement therapy with AAV-Ctnnd2 alleviates cognitive impairments in CdCS rats, highlighting the potential for early intervention. However, the effectiveness of this therapy is confined to the early developmental stages and does not fully restore all CdCS symptoms. The findings deepen the understanding of CdCS pathogenesis and suggest promising therapeutic directions.
cell therapies
2024-08-09 | Establishment and Characterization of Cri Du Chat Neuronal Stem Cells: A Novel Promising Resource to Study the Syndrome
The Cri Du Chat (CdC) Syndrome is a rare chromosome disease condition resulting from variable size deletion occurring on the short arm of one of the chromosomes 5. This disorder, which affects one in 50,000 births, is responsible for developmental retardation, the mechanism of which has remained unexplained. TERT, SEMA5A, CTNND2, TPPP, mapped in chromosome 5 short arm, are known to be expressed in the brain, and to play a role in the development of the nervous system, oligodentrocytes and in the regulation of glutamatergic and dopaminergic synaptic transmission. It is critical to understand how their haploinsufficiency might affect the development and presentation of the disease. In the absence of an animal model and of significant accessible, human tissue, human pluripotent stem cells (iPSC) directly reprogrammed from patient somatic cells open a new area of disease modeling as they can virtually be differentiated into any cell type. Our study reports, for the first time, the generation of neuronal stem cells (NSCs) from CdC-iPSCs line and in addition, subsequent differentiation into a heterogeneous population of neurons. Gene expression of the mentioned and single copy deleted genes was also evaluated by comparing their expression level in iPSC, NSCs and neuron lines. The present research represents the first and the most innovative approach, to create an in vitro CdC neuronal model to have a new translational framework to study the pathological processes.
2020-03-02 | Improved memory and reduced anxiety in δ-catenin transgenic mice.
δ-Catenin is abundant in the brain and affects its synaptic plasticity. Furthermore, loss of δ-catenin is related to the deficits of learning and memory, mental retardation (cri-du-chat syndrome), and autism. A few studies about δ-catenin deficiency mice were performed. However, the effect of δ-catenin overexpression in the brain has not been investigated as yet. Therefore we generated a δ-catenin overexpressing mouse model. To generate a transgenic mouse model overexpressing δ-catenin in the brain, δ-catenin plasmid having a Thy-1 promotor was microinjected in C57BL/6 mice. Our results showed δ-catenin transgenic mice expressed higher levels of N-cadherin, β-catenin, and p120-catenin than did wild type mice. Furthermore, δ-catenin transgenic mice exhibited better object recognition, better sociability, and lower anxiety than wild type mice. However, both mice groups showed a similar pattern in locomotion tests. Although δ-catenin transgenic mice show similar locomotion, they show improved sociability and reduced anxiety. These characteristics are opposite to the symptoms of autism or mental retardation, which are caused when δ-catenin is deficient. These results suggest that δ-catenin may alleviate symptoms of autism, Alzheimer's disease and mental retardation.
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